Results 31 to 40 of about 1,366 (166)

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

Scientific Reports, 2022
Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi, Tohru Fujiwara, Koya Ono, Chie Suzuki, Maika Nikaido, Daichi Inoue, Hiroki Kato, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Yukio Nakamura, Hideo Harigae   +13 more
doaj   +1 more source

Lethal ALAS2 Mutation in Males X-Linked Sideroblastic Anaemia

British Journal of Haematology, 2017
Laurent Pascal, Laurent Gouya, Isabelle Callebaut   +2 more
exaly   +2 more sources

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

BMC Medical Genomics, 2021
Background X-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or only mildly anaemic.
Diane Nzelu, Panicos Shangaris, Lisa Story, Frances Smith, Chinthika Piyasena, Jayanthi Alamelu, Amira Elmakky, Maria Pelidis, Rachel Mayhew, Srividhya Sankaran   +9 more
doaj   +1 more source

Identification of Regulatory Factors and Prognostic Markers in Amyotrophic Lateral Sclerosis

Antioxidants, 2022
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive degeneration of motor neurons, leading to muscle atrophy, paralysis and even death.
Hualin Sun, Ming Li, Yanan Ji, Jianwei Zhu, Zehao Chen, Lilei Zhang, Chunyan Deng, Qiong Cheng, Wei Wang, Yuntian Shen, Dingding Shen   +10 more
doaj   +1 more source

Assignment of human erythroid [delta]-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;Autosome translocations [PDF]

, 1992
The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding [delta]-aminolevulinate synthase have recently been mapped to chromosomes Xq21.1-->q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in
Cotter, Philip D., Bishop, David F., Willard, Huntington F., Gorski, Jerome L.   +3 more
core   +1 more source

Human 5'-Aminolevulinate Synthase, Erythroid-Specific (ALAS2); A Target Enabling Package

, 2019
Erythorid specific 5’-Aminolevulinate synthase (ALAS2) catalyses the first and rate-determining step in haem biosynthesis during erythroid development.
Henry J. Bailey (6845153), Jason R. Marcero, Jason R. Marcero (784953), William R. Foster, Harry A. Dailey, Jr., Elzbieta Rembeza, Wyatt W. Yue, Harry A. Dailey, Jr. (6845156), William R. Foster (1744990), Wyatt W. Yue (1317096), Henry J. Bailey, Gustavo A. Bezerra (6845150), Gustavo A. Bezerra, Elzbieta Rembeza (5114207)   +13 more
core   +2 more sources

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica, 2014
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara   +6 more
doaj   +1 more source

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

Frontiers in Physiology, 2022
Background: The heme biosynthesis (HB) involves eight subsequent enzymatic steps. Erythropoietic protoporphyria (EPP) is caused by loss-of-function mutations in the ferrochelatase (FECH) gene, which in the last HB step inserts ferrous iron into ...
Francesca Granata, Valentina Brancaleoni, Jasmin Barman-Aksözen, Margherita Scopetti, Giacomo De Luca, Silvia Fustinoni, Irene Motta, Irene Motta, Elena Di Pierro, Giovanna Graziadei   +9 more
doaj   +1 more source

Harnessing large language models (LLMs) for candidate gene prioritization and selection

Journal of Translational Medicine, 2023
Background Feature selection is a critical step for translating advances afforded by systems-scale molecular profiling into actionable clinical insights.
Mohammed Toufiq, Darawan Rinchai, Eleonore Bettacchioli, Basirudeen Syed Ahamed Kabeer, Taushif Khan, Bishesh Subba, Olivia White, Marina Yurieva, Joshy George, Noemie Jourde-Chiche, Laurent Chiche, Karolina Palucka, Damien Chaussabel   +12 more
doaj   +1 more source

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

Haematologica, 2021
Not available.
S. Ducamp, Sara Luscieti, X. Ferrer-Cortès, G. Nicolas, H. Manceau, K. Peoc'h, Yvette Y. Yien, C. Kannengiesser, L. Gouya, H. Puy, Mayka Sánchez   +10 more
semanticscholar   +1 more source